Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics

NCT ID: NCT01675674

Last Updated: 2013-05-24

Basic Information

• Recruitment Status: TERMINATED
• Total Enrollment: 3000 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2011-09-30
• Study Completion Date: 2014-03-31

Brief Summary

This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits. The study will also evaluate the utility of dried blood spot testing for MPS.

Detailed Description

MPS, or mucopolysaccharidosis (mew-co-paw-lee-sack-a-rid-o-sis), disorders are a group of rare inherited diseases that affect about 1 in every 25,000 people in the United States. There are 7 MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), II (Hunter syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), VI (Maroteaux-Lamy syndrome), VII (Sly syndrome), and IX (no other name). In people who have MPS, the body cannot break down certain materials in the body's cells. These materials then build up in the cells, causing problems such as stiff joints, misshapen bones, curled hands and reduced hand function, frequent ear infections, vision and hearing problems, "thickened" facial features, and heart problems. Getting access to diagnosis and treatment can help make MPS easier to manage; but unfortunately, people with MPS may go undiagnosed for many years.

This study is being done to learn how many children and young adults who come to pediatric rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits.

The study will use dried blood spot (DBS) testing to screen for these types of MPS. It will also use a survey to evaluate the utility and convenience of dried blood spot testing for MPS.

Conditions

Mucopolysaccharidoses; Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis IV; Mucopolysaccharidosis VI

Study Groups

Dried blood spot test for MPS

For the prospective study, subjects will be drawn from all children (aged 6 months to 18 years) with a history of presenting to selected clinics (pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see inclusion criteria).

For the retrospective chart review, subjects will be drawn from all children who were 6 months to 18 years of age at the time of first presentation to selected clinics (pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see inclusion criteria).

Dried blood spot test for MPS

Intervention Type: OTHER

The dried blood spot test uses a few drops of blood on filter paper to screen for mucopolysaccharidoses (MPS I, MPS II, MPS IVA and MPS VI in this study).

Interventions

Dried blood spot test for MPS

The dried blood spot test uses a few drops of blood on filter paper to screen for mucopolysaccharidoses (MPS I, MPS II, MPS IVA and MPS VI in this study).

Intervention Type: OTHER

Other Intervention Names

DBS testing

Eligibility Criteria

Inclusion Criteria

1. History of presenting to the pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see below):

Highly suspicious symptoms:

• characteristic facial features
• hearing loss
• corneal clouding
• cardiac manifestations
• dysostosis multiplex
• hepatosplenomegaly
• spinal cord compression
• hydrocephalus
• carpal tunnel syndrome
• delayed mental development or regression in mental development

Less suspicious symptoms:

• short stature
• extensive Mongolian spots
• sleep apnea
• copious nasal discharge
• recurrent otitis media, ear fluid that will not drain, or the presence of ear tubes
• frequent upper respiratory tract infections
• joint stiffness or limited range of motion
• hand problems (Claw hands or reduced hand function)
• hernia (inguinal or umbilical)
• abnormally shaped teeth
• dental cysts
• tooth abscess

2. Age of at least 6 months.

3. Age under 18 years at time of initial clinic presentation.

4. Written, signed, and dated informed consent obtained from the subject (if 18 years of age) or the subject's parents (if under 18). Written, dated, and signed assent from children is also required at some centers.

Exclusion Criteria

1. Under 6 months of age.

2. Over 18 years of age at initial clinic presentation.

3. Patients who have had confirmation of an MPS disorder by biochemical analysis and/or by molecular biology.

4. Patients for whom MPS enzyme activity tests (i.e., enzyme levels tested in fibroblasts, leukocytes, serum, or blood spots) have already been performed, and for which the result was normal. (Patients who have been screened for MPS through urinary GAG and tested normal will not be excluded from the study.)

5. Written informed consent not available.

6. Subject unwilling or unable to provide the necessary blood spot for analysis.

7. Any other condition that would, in the opinion of the investigator, interfere with the participant's ability to provide informed consent, comply with study instructions, or possibly confound interpretation of study results.

• Minimum Eligible Age: 6 Months
• Maximum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

MediResource Inc.

OTHER

Sponsor Role: collaborator

National MPS Society

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Thomas JA Lehman, MD

Role: PRINCIPAL_INVESTIGATOR

Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University

Locations

University of Medicine and Dentistry of New Jersey

New Brunswick, New Jersey, United States

Hospital for Special Surgery

New York, New York, United States

Countries

United States

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Other Identifiers

RHE-001

Identifier Type: -

Identifier Source: org_study_id